JIMD Reports - Volume 11

  • Johannes Zschocke
  • K Michael Gibson
  • Garry Brown
  • Eva Morava
  • Verena Peters
Book

Part of the JIMD Reports book series (JIMD, volume 11)

Table of contents

  1. Front Matter
    Pages i-vii
    PDF
  2. Enzyme Replacement Therapy in a Patient with Gaucher Disease Type III: A Paradigmatic Case Showing Severe Adverse Reactions Started a Long Time After the Beginning of Treatment
    Filippo Vairo, Cristina Netto, Alicia Dorneles, Suzana Mittelstadt, Matheus Wilke, Divair Doneda et al.
    Pages 1-6
  3. Expanding the Spectrum of Methylmalonic Acid-Induced Pallidal Stroke: First Reported Case of Metabolic Globus Pallidus Stroke in Transcobalamin II Deficiency
    Lance Harrington Rodan, Navin Mishra, Ivanna Yau, Andrea Andrade, Komudi Siriwardena, Ingrid Tein
    Pages 7-11
  4. A Large Intragenic Deletion in the ACADM Gene Can Cause MCAD Deficiency but is not Detected on Routine Sequencing
    Claire Searle, Brage Storstein Andresen, Ed Wraith, Jamie Higgs, Deborah Gray, Alison Mills et al.
    Pages 13-16
  5. Infantile Hypophosphatasia Secondary to a Novel Compound Heterozygous Mutation Presenting with Pyridoxine-Responsive Seizures
    Dina Belachew, Traci Kazmerski, Ingrid Libman, Amy C. Goldstein, Susan T. Stevens, Stephanie DeWard et al.
    Pages 17-24
  6. Liver Transplantation Prevents Progressive Neurological Impairment in Argininemia
    E. Santos Silva, M. L. Cardoso, L. Vilarinho, M. Medina, C. Barbot, E. Martins
    Pages 25-30
  7. Motor and Speech Disorders in Classic Galactosemia
    Nancy L. Potter, Yves Nievergelt, Lawrence D. Shriberg
    Pages 31-41
  8. Defect of Cobalamin Intracellular Metabolism Presenting as Diabetic Ketoacidosis: A Rare Manifestation
    Sheetal Sharda, Suresh Kumar Angurana, Mandeep Walia, Savita Attri
    Pages 43-47
  9. Cerebral Magnetic Resonance Spectroscopy Demonstrates Long-Term Effect of Bone Marrow Transplantation in α-Mannosidosis
    Else R. Danielsen, Allan M. Lund, Carsten Thomsen
    Pages 49-52
  10. Early Cardiac Changes in Children with Anderson–Fabry Disease
    Stepan Havranek, Ales Linhart, Zuzana Urbanova, Uma Ramaswami
    Pages 53-64
  11. Development of a Scoring System to Evaluate the Severity of Craniocervical Spinal Cord Compression in Patients with Mucopolysaccharidosis IVA (Morquio A Syndrome)
    Christian Möllmann, Christian G. Lampe, Wibke Müller-Forell, Maurizio Scarpa, Paul Harmatz, Manfred Schwarz et al.
    Pages 65-72
  12. Outcome of Perinatal Hypophosphatasia in Manitoba Mennonites: A Retrospective Cohort Analysis
    Edward C. W. Leung, Aizeddin A. Mhanni, Martin Reed, Michael P. Whyte, Hal Landy, Cheryl R. Greenberg
    Pages 73-78
  13. Novel Deletion Mutation Identified in a Patient with Late-Onset Combined Methylmalonic Acidemia and Homocystinuria, cblC Type
    Paul Hoff Backe, Mari Ytre-Arne, Åsmund Kjendseth Røhr, Else Brodtkorb, Brian Fowler, Helge Rootwelt et al.
    Pages 79-85
  14. Substrate Reduction Therapy in Four Patients with Milder CLN1 Mutations and Juvenile-Onset Batten Disease Using Cysteamine Bitartrate
    M. Gavin, G. Y. Wen, J. Messing, S. Adelman, A. Logush, E. C. Jenkins et al.
    Pages 87-92
  15. A Clinically Severe Variant of β-Mannosidosis, Presenting with Neonatal Onset Epilepsy with Subsequent Evolution of Hydrocephalus
    Broomfield A, Gunny R, Ali I, Vellodi A, Prabhakar P
    Pages 93-97
  16. A Novel Exonic Splicing Mutation in the TAZ (G4.5) Gene in a Case with Atypical Barth Syndrome
    Yuxin Fan, Jon Steller, Iris L. Gonzalez, Wim Kulik, Michelle Fox, Richard Chang et al.
    Pages 99-106
  17. Selective Screening for Lysosomal Storage Diseases with Dried Blood Spots Collected on Filter Paper in 4,700 High-Risk Colombian Subjects
    Alfredo Uribe, Roberto Giugliani
    Pages 107-116
  18. Mitochondrial Infantile Liver Disease due to TRMU Gene Mutations: Three New Cases
    Pauline Gaignard, Emmanuel Gonzales, Oanez Ackermann, Philippe Labrune, Isabelle Correia, Patrice Therond et al.
    Pages 117-123
  19. Spondyloepiphyseal Dysplasias and Bilateral Legg-Calvé-Perthes Disease: Diagnostic Considerations for Mucopolysaccharidoses
    Nancy J. Mendelsohn, Timothy Wood, Rebecca A. Olson, Renee Temme, Susan Hale, Haoyue Zhang et al.
    Pages 125-132
  20. Severe Neonatal Metabolic Decompensation in Methylmalonic Acidemia Caused by CblD Defect
    R. Parini, F. Furlan, A. Brambilla, D. Codazzi, S. Vedovati, C. Corbetta et al.
    Pages 133-137

About this book

Introduction

JIMD Reports publishes case and short research reports in the area of inherited metabolic disorders. Case reports highlight some unusual or previously unrecorded feature relevant to the disorder, or serve as an important reminder of clinical or biochemical features of a Mendelian disorder.

Keywords

endocrinology inherited metabolic diseases medical genetics pediatrics

Editors and affiliations

  • Johannes Zschocke
    • 1
  • K Michael Gibson
    • 2
  • Garry Brown
    • 3
  • Eva Morava
    • 4
  • Verena Peters
    • 5
  1. 1.Medizinische Universität Innsbruck Sektionen für Humangenetik und KlinischeInnsbruckAustria
  2. 2.Clinical Pharmacology UnitDivision of Health Sciences Washington State UniversitySpokaneUSA
  3. 3.Department of Biochemistry Genetics UnitUniversity of OxfordOxfordUnited Kingdom
  4. 4.Department of Pediatrics IGMDRadboud University Nijmegen Medical CenterNijmegenThe Netherlands
  5. 5.Center for Child and Adolescent Medicine Heidelberg University HospitalHeidelbergGermany

Bibliographic information

  • DOI https://doi.org/10.1007/978-3-642-37328-2
  • Copyright Information SSIEM and Springer-Verlag Berlin Heidelberg 2013
  • Publisher Name Springer, Berlin, Heidelberg
  • eBook Packages Medicine
  • Print ISBN 978-3-642-37327-5
  • Online ISBN 978-3-642-37328-2
  • Series Print ISSN 2192-8304
  • Series Online ISSN 2192-8312
  • About this book